Ruptured Sinus of Valsalva Aneurysm Mimicking Infective Endocarditis in DiGeorge Syndrome.

Sinus of Valsalva aneurysm (SOVA) is rare and can occur in diseases with progressive aortic dilation. We report an adolescent male with DiGeorge syndrome who presented with fever and wide pulse pressure mimicking endocarditis. A timely diagnosis of ruptured SOVA using echocardiography enabled optimal treatment. Our case highlights the need to assess for this rare condition in this high-risk population. Copyright:

INTRODUCTION

Sinus of Valsalva aneurysm (SOVA) is a rare entity with estimated prevalence of 0.09%, comprising 0.1%–3.5% of all congenital cardiac anomalies.[1] It entails enlargement of the aortic root between the aortic valve annulus and the sinotubular ridge.[1] SOVA of the right cusp is the most common, seconded by noncoronary cusp.[2] SOVA may rupture 35% of the time and can be fatal necessitating emergent repair.[2] We report a case of ruptured SOVA of noncoronary cusp in a patient with DiGeorge syndrome mimicking infective endocarditis.

CASE REPORT

A 17-year-old male with DiGeorge syndrome, aortic root dilation, and solitary left kidney presented with cough, progressive fatigue, and fever of 2 weeks’ duration. On admission, he was febrile and had sinus tachycardia with a wide pulse pressure on examination. Laboratory parameters were significant for elevation of white blood cell count, C-reactive protein, and creatinine. A chest X-ray revealed cardiomegaly with pulmonary edema. Respiratory viral panel was positive for rhinovirus. At this time, differential diagnoses included sepsis, myocarditis, and infective endocarditis. In lieu of this, blood cultures were obtained and broad-spectrum antibiotics were initiated.

Initial transthoracic echocardiogram (TTE) was significant for tricuspid regurgitation, right ventricular dilation, and normal left ventricular function (end-diastolic dimension 6.0 cm; ejection fraction 70%) and re-demonstrated the known mild aortic root dilation (aortic root 3.58 cm; Z score 3.4) [Figure 1]. His clinical course was remarkable for new-onset melena raising concern for septic shock requiring escalation of inotropic support and packed red blood cell transfusion. On day 3 of admission, he developed a new-onset continuous murmur at the left sternal border with worsening of wide pulse pressure (diastolic blood pressures were noted to be low, implicating decreased coronary perfusion). A TTE was repeated and demonstrated a possible fistulous communication of coronary artery into the right atrium (RA), new left ventricular dilation (end-diastolic dimension 6.92 cm; ejection fraction 60%), and trivial aortic regurgitation [Figure 2]. He was emergently taken for surgical repair due to multiorgan dysfunction. Intraoperative transesophageal echocardiogram (TEE) revealed ruptured SOVA of the noncoronary cusp with 1.2 cm communication into the RA and an echogenic mass in its vicinity [Figures 3 and 4]. This was suspected to be either a thrombus or a vegetation. Windsock appearance of the ruptured aneurysm was appreciated, and cultures with histopathology specimen were obtained for a definitive diagnosis. The patient underwent Gore Tex patch closure of the defect [Figure 5]. Histopathology revealed thin fibrous wall with rupture site and no associated inflammation (Movat pentachrome stain, ×200) with an organizing thrombus [Figure 6]. He had an uneventful recovery with gradual improvement in ventricular function and an ejection fraction that has since increased from 37% preoperatively to 59% at the most recent outpatient follow-up.

Figure 1

Initial transthoracic echocardiogram demonstrating dilated aortic root, mildly dilated right ventricle with mild tricuspid regurgitation (yellow arrow)

Figure 2

Subsequent transthoracic echocardiogram demonstrating trivial aortic regurgitation, jet of color Doppler near the tricuspid valve suggestive of fistulous communication from the coronary artery to the right atrium, and mild left ventricular dilation

Figure 3

Two-dimensional and color-compared transthoracic echocardiogram: Ruptured sinus of Valsalva aneurysm (red arrow) into right atrium with echogenic mass (yellow arrow)

Figure 4

Three-dimensional and color-compared transthoracic echocardiogram: Ruptured sinus of Valsalva aneurysm (red arrow) into right atrium with echogenic mass (yellow arrow)

Figure 5

Intraoperative picture depicting ruptured sinus of Valsalva aneurysm before and after repair (blue arrows)

Figure 6

Histopathology of the sinus of Valsalva: Thin fibrous wall with rupture site (blue arrow) and no associated inflammation (Movat pentachrome stain, ×200)

DISCUSSION

SOVA has a 4:1 male-to-female preponderance with higher incidence in the Asian population.[1] It may be asymptomatic until rupture occurs.[2] It results from congenital elastin deficiency with failure of fusion between aortic annulus and media, leading to aneurysmal dilation at this weak point that is exposed to high aortic pressures.[3] Dilation may form a diverticulum into the coronary cusps causing aortic regurgitation.[3] Syndromes associated with progressive aortic dilation such as Marfan, Loeys–Dietz, Turners, and rarely DiGeorge syndromes can present with SOVA.[34] The hemodynamic significance of ruptured SOVA is reflected in the degree of left-to-right shunt, with acute large rupture precipitating progressive heart failure.[24] Our case demonstrated such hemodynamically significant shunting signified by widening of pulse pressure and escalation of inotropic support. Although the initial presentation with fever, wide pulse pressure, and elevated biomarkers of infection raised concern for sepsis, the change in clinical examination with new-onset continuous murmur was suggestive of a cardiac etiology for worsening hemodynamic status. This emphasizes the importance of serial clinical examinations that trainees and physicians should inculcate in their practice and be able to recognize in a timely manner, particularly in patients who may have an underlying predisposing condition. The new findings on clinical examination resulted in repeat imaging with TTE and TEE enabling an accurate diagnosis in this case. Echocardiography is the most frequent and readily available imaging modality for diagnosis with high sensitivity and specificity.[4] Intraoperative TEE was crucial in our case, facilitating real-time surgical decision-making.

CONCLUSION

Unrepaired ruptured SOVA can be fatal with a mean survival of 3.9 years.[5] A high index of suspicion for SOVA should be maintained in patients with acute heart failure and wide pulse pressure, especially in diseases associated with progressive aortic dilatation. Prompt diagnosis with TTE and TEE enable timely intervention and reduce morbidity and mortality.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.